Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000350124 Individual ID 00464063 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 2.70 (SD-0.7); 5.3y-weight 15.3kg (SD-1.6), height 100.3cm (SD-2.2), OFC 49.4cm (SD-1.1); 10m-sit; 27m-walk; 14m-first words; autistic traits, self-injurious (biting), tantrums; neonatal hypotonia; no swallowing difficulties; no seizures; atrial septal defect; pes planus Inheritance Isolated (sporadic) Age/Examination 6.0y Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-02-14 19:45:17 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.